BEACON - Phase III Clinical Study of Rugonersen in Angelman Syndrome.

NCT07605429 | Not Yet Recruiting Phase 3 DMC FDA Drug

• 1 other identifier: OHB-724-301
• Study Type: interventional
• Target: 165
• Locations: 0 countries
• Sites: N/A

Brief Summary

Purpose of the study is to evaluate the efficacy and safety of intrathecally administered rugonersen in pediatric and adult participants with Angelman syndrome.

Conditions

Angelman Syndrome

Outcome Measures

Primary Outcomes (1)

• Change from baseline in the Bayley-4 cognition and/or expressive communication raw scores without caregiver input at Week 56.

  The Bayley-4 is a performance-based assessment of developmental functioning of five core battery scales: cognitive, language (two subtests: expressive and receptive communication), motor (two subtests: gross and fine motor), social-emotional, and adaptive behavior. Change from baseline in the raw scores of the cognition and/or expressive communication scales of the Bayley-4, without caregiver input, higher change reflects a better outcome of the core scales.

  Baseline to week 56

Secondary Outcomes (3)

• Symptoms of Angelman Syndrome - Clinician Global Impression of Change (SAS-CGI-C) overall at Week 56.

  Week 56

• Change from baseline in electroencephalogram (EEG) delta-band power at Week 56.

  Week 56

• Incidence of serious adverse events (SAEs).

  Week 60

Study Arms (2)

rugonersen

EXPERIMENTAL

Study Drug

Drug: rugonersen

Sham

SHAM COMPARATOR

Sham Procedure

Procedure: Sham procedure

Interventions

rugonersen DRUG

Study Drug

rugonersen

Sham procedure PROCEDURE

Sham Procedure

Sham

Eligibility Criteria

• Age: 1 Year - 50 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)

You may qualify if:

• Male or female and ≥ 1 year to ≤ 50 years of age at signing of the informed consent form.
• Independent of the age of the participant, the participant has a parent, caregiver or legal representative (herein after referred to as caregiver) who is reliable and competent in the Investigator's judgement. The caregiver is:
• Able to consent for the participant according to ICH and local regulations,
• At least 18 years of age,
• Willing and able to accompany the participant to clinic visits and be available to the investigational site by telephone, email, or other electronic form as needed,
• Is, and will likely remain, sufficiently knowledgeable of participant's condition throughout the study to be able to respond to queries, and is willing and able to complete caregiver assessments and inform the site personnel about the participant's condition as requested.
• Clinical diagnosis of Angelman syndrome.
• Pre-existing medical records confirm the clinical diagnosis of AS and the molecular diagnosis with genotypic classification of either:
• Mutation in the UBE3A gene, and the pathogenic or likely pathogenic variant identified,
• Deletion on the maternally inherited chromosome 15q11-q13 that encompasses the UBE3A gene.
• Able to comply with all study requirements.
• Able to tolerate blood draws.
• Able to undergo LP and IT injection, under sedation or anesthesia without intubation as deemed appropriate.
• Has stable medical status for at least 4 weeks prior to screening and at the time of enrolment.
• Bodyweight \> 7.5 kg

You may not qualify if:

• Molecular diagnosis of AS with genotypic classification of:
• Uniparental paternal disomy (UPD) of 15q11-q13,
• Imprinting center defect (ICD) within 15q11-q13,
• A partial molecular diagnosis of AS, that cannot exclude UPD or ICD despite appropriate genetic testing.
• Clinically significant vital signs or laboratory abnormalities during screening, including:
• o Abnormal coagulation profile demonstrated by platelet count at or below lower limit of normal (140 × 109/L), or by abnormal international normalized ratio (INR) and/or prothrombin time (PT), or activated partial thromboplastin time (aPTT).
• Presence of clinically relevant electrocardiogram (ECG) abnormalities prior to dosing such as QT interval corrected for heart rate using Fredericia's formula (QTcF) \> 460 ms, personal or family history of congenital long QT syndrome indicating safety risk in the Investigator's opinion. First-degree atrioventricular block or isolated right bundle branch block is allowed.
• Clinically relevant disease or condition, including hematological, hepatic, cardiac or renal disease or abnormality, that would, in the judgement of the Investigator, pose an unacceptable risk to the participant or interfere with the conduct of the study
• Any concomitant condition that might interfere with the clinical evaluation of AS and that is not related to AS.
• Known history of human immunodeficiency virus (HIV), hepatitis B, C, or E virus.
• Any condition that increases the risk of meningitis.
• History of bleeding diathesis or coagulopathy.
• Medical history of brain or spinal disease that would interfere with the LP process, CSF circulation or safety assessment, including:
• Tumors or abnormalities detected by magnetic resonance imaging (MRI) or computed tomography (CT),
• Subarachnoid hemorrhage,

Sponsors & Collaborators

• OHB Pediatrics Ltd.: lead
• Medpace, Inc.: collaborator

MeSH Terms

Conditions

Angelman Syndrome

Condition Hierarchy (Ancestors)

Movement Disorders; Central Nervous System Diseases; Nervous System Diseases; Abnormalities, Multiple; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Chromosome Disorders; Genetic Diseases, Inborn; Imprinting Disorders

Study Officials

• Brenda Vincenzi, MD

  OHB Pediatrics Ltd.

  STUDY DIRECTOR

Central Study Contacts

Brenda Vincenzi, MD

CONTACT

+18573022294; patientadvocacy@oakhillbio.com

Study Design

• Study Type: interventional
• Phase: phase 3
• Allocation: RANDOMIZED
• Masking: QUADRUPLE
• Who Masked: PARTICIPANT, CARE PROVIDER, INVESTIGATOR, OUTCOMES ASSESSOR
• Purpose: TREATMENT
• Intervention Model: PARALLEL
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR
• Expanded Access: Yes

Study Record Dates

• First Submitted: May 15, 2026
• First Posted: May 26, 2026
• Study Start: June 1, 2026
• Primary Completion (Estimated): March 1, 2029
• Study Completion (Estimated): March 1, 2031
• Last Updated: June 4, 2026

Record last verified: 2026-06

Data Sharing

• IPD Sharing: Will not share